C21orf33

ES1 protein homolog, mitochondrial is a protein that in humans is encoded by the C21orf33 gene.[5][6][7]

GATD3A
Identifiers
Aliases	GATD3A, ES1, GT335, HES1, KNPH, KNPI, chromosome 21 open reading frame 33, GATD3, C21orf33, glutamine amidotransferase like class 1 domain containing 3A
External IDs	OMIM: 601659 MGI: 1351861 HomoloGene: 3416 GeneCards: GATD3A
Gene location (Human) Chr. Chromosome 21 (human)[1] Band 21q22.3 Start 44,133,610 bp[1] End 44,210,114 bp[1]
Gene location (Mouse) Chr. Chromosome 10 (mouse)[2] Band 10 C1|10 39.72 cM Start 78,162,066 bp[2] End 78,169,782 bp[2]
RNA expression pattern More reference expression data
Orthologs
Species	Human	Mouse
Entrez	8209	28295
Ensembl	ENSG00000160221	ENSMUSG00000053329
UniProt	F2Z2Q0 H7C1F6	Q9D172
RefSeq (mRNA)	NM_004649 NM_198155 NM_001320383 NM_001320384	NM_138601 NM_001364646
RefSeq (protein)	NP_001307312 NP_001307313 NP_004640 NP_937798 NP_001350687 NP_001350689 NP_001350690	NP_613067 NP_001351575
Location (UCSC)	Chr 21: 44.13 – 44.21 Mb	Chr 10: 78.16 – 78.17 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

References

1. GRCh38: Ensembl release 89: ENSG00000160221 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000053329 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Scott HS, Chen H, Rossier C, Lalioti MD, Antonarakis SE (Jun 1997). "Isolation of a human gene (HES1) with homology to an Escherichia coli and a zebrafish protein that maps to chromosome 21q22.3". Hum Genet. 99 (5): 616–23. doi:10.1007/s004390050416. PMID 9150728.
6. Lafreniere RG, Rochefort DL, Kibar Z, Fon EA, Han F, Cochius J, Kang X, Baird S, Korneluk RG, Andermann E, Rommens JM, Rouleau GA (Mar 1997). "Isolation and characterization of GT335, a novel human gene conserved in Escherichia coli and mapping to 21q22.3". Genomics. 38 (3): 264–72. doi:10.1006/geno.1996.0627. PMID 8975701.
7. "Entrez Gene: C21orf33 chromosome 21 open reading frame 33".

External links

• Human C21orf33 genome location and C21orf33 gene details page in the UCSC Genome Browser.
• Human HES1 genome location and HES1 gene details page in the UCSC Genome Browser.

Further reading

• Hochstrasser DF, Frutiger S, Paquet N, et al. (1993). "Human liver protein map: a reference database established by microsequencing and gel comparison". Electrophoresis. 13 (12): 992–1001. doi:10.1002/elps.11501301201. PMID 1286669.
• Nagamine K, Kudoh J, Minoshima S, et al. (1996). "Isolation of cDNA for a novel human protein KNP-I that is homologous to the E. coli SCRP-27A protein from the autoimmune polyglandular disease type I (APECED) region of chromosome 21q22.3". Biochem. Biophys. Res. Commun. 225 (2): 608–16. doi:10.1006/bbrc.1996.1218. PMID 8753807.
• Hillier LD, Lennon G, Becker M, et al. (1997). "Generation and analysis of 280,000 human expressed sequence tags". Genome Res. 6 (9): 807–28. doi:10.1101/gr.6.9.807. PMID 8889549.
• Kudoh J, Nagamine K, Asakawa S, et al. (1997). "Localization of 16 exons to a 450-kb region involved in the autoimmune polyglandular disease type I (APECED) on human chromosome 21q22.3". DNA Res. 4 (1): 45–52. doi:10.1093/dnares/4.1.45. PMID 9179495.
• Nagamine K, Kudoh J, Minoshima S, et al. (1997). "Genomic organization and complete nucleotide sequence of the human PWP2 gene on chromosome 21". Genomics. 42 (3): 528–31. doi:10.1006/geno.1997.4761. PMID 9205129.
• Hattori M, Fujiyama A, Taylor TD, et al. (2000). "The DNA sequence of human chromosome 21". Nature. 405 (6784): 311–9. doi:10.1038/35012518. PMID 10830953.
• Yan B, Raben N, Plotz P (2002). "The human acid alpha-glucosidase gene is a novel target of the Notch-1/Hes-1 signaling pathway". J. Biol. Chem. 277 (33): 29760–4. doi:10.1074/jbc.M204721200. PMID 12065598.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Shin JH, Weitzdoerfer R, Fountoulakis M, Lubec G (2004). "Expression of cystathionine beta-synthase, pyridoxal kinase, and ES1 protein homolog (mitochondrial precursor) in fetal Down syndrome brain". Neurochem. Int. 45 (1): 73–9. doi:10.1016/j.neuint.2003.12.004. PMID 15082224.
• Hartman J, Müller P, Foster JS, et al. (2005). "HES-1 inhibits 17beta-estradiol and heregulin-beta1-mediated upregulation of E2F-1". Oncogene. 23 (54): 8826–33. doi:10.1038/sj.onc.1208139. PMID 15467735.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.